A66T (p.Ala66Thr) variant of GATA1 (Erythroid transcription factor)
A66T (p.Ala66Thr) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- rs149753411
- ClinGen CA10404552
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64962
- Conflicting interpretations
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.37
- AlphaMissense 0.07
- MetaLR 0.83
- MetaSVM 0.29
- CADD 7.15
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00027)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)